Malak Ali AlGhamdi (Malak Alghamdi, Malak Ali Alghamdi, Malak Ali Alghamdi, Malak A Alghamdi)

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 9

Top Topics

Polycyclic Aromatic Hydrocarbons

Internal Carotid Artery

Muscular Dystrophy

Top Venues

Clinical genetics

Circulation. Genomic and precision medicine

Clinical case reports

This page only lists publications with an associated author ORCID identifier.

Publications

Malak Ali AlGhamdi, Wael Alqarawi, Essa Alharbi, Reham M Balahmar, Haya Alruqi, Nisserin Jadu, Majid Alhomidan, Mohammed Hussien Alghamdi, Naif A M Almontashiri
Loss of Function Variant in SMAD6 Is Associated With a Novel Phenotype of Internal Carotid Artery Dissection. Circulation. Genomic and precision medicine 17 (4) (2024)
Malak Ali AlGhamdi, Wael Alqarawi, Essa Alharbi, Reham M Balahmar, Haya Alruqi, Nisserin Jadu, Majid Alhomidan, Mohammed Hussien Alghamdi, Naif A M Almontashiri
Loss of Function Variant in SMAD6 Is Associated With a Novel Phenotype of Internal Carotid Artery Dissection. Circulation. Genomic and precision medicine (2024)
Malak Ali AlGhamdi, Anne O'Donnell-Luria, Naif A Almontashiri, Wajeih Y AlAali, Hebatallah H Ali, Harvey L Levy
Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman. JIMD reports 64 (5) (2023)
Khalid A Alhasan, Walaa Alshuaibi, Muddathir H Hamad, Suha Salim, Dima Z Jamjoom, Aqeela H Alhashim, Malak Ali AlGhamdi, Amal Y Kentab, Fahad A Bashiri
Hypermanganesemia with Dystonia Type 2: A Potentially Treatable Neurodegenerative Disorder: A Case Series in a Tertiary University Hospital. Children (Basel, Switzerland) 9 (9) (2022)
Lia Abbasi-Moheb, Ana Westenberger, Maha Alotaibi, Malak Ali AlGhamdi, Jozef L Hertecant, Amir Ariamand, Christian Beetz, Arndt Rolfs, Aida Maria Bertoli-Avella, Peter Bauer
Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathy. Clinical genetics 99 (4) (2021)
Malak Ali AlGhamdi, Ameinah Alrasheedi, Esra Alghamdi, Nouran Adly, Wajeih Y AlAali, Amal Alhashem, Abdulaziz Alshahrani, Hanan Shamseldin, Fowzan Sami Alkuraya, Majid Alfadhel
Molecular autopsy by proxy in preconception counseling. Clinical genetics 100 (6) (2021)
Malak Ali AlGhamdi, Fahad A Bashiri, Marwa Abdelhakim, Nouran Adly, Dima Z Jamjoom, Khalid M Sumaily, Bandar Alghanem, Stefan T Arold
Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency. Clinical genetics 99 (1) (2020)
Malak Ali AlGhamdi, Waleed H Alkhamis, Dima Z Jamjoom, Reem Al Khalifah, Nawaf Rahi Alshammari, Khalid Alsumaili, Stefan T Arold
Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism. Clinical case reports 9 (1) (2020)
Malak Ali AlGhamdi, Reem Abdullah Al Khalifah, Doua K Al Homyani, Waleed H Alkhamis, Stefan T Arold, Aishah Ekhzaimy, Mohammed El-Wetidy, Tarek Kashour, Rabih Halwani
A Novel TBX1 Variant Causing Hypoparathyroidism and Deafness. Journal of the Endocrine Society 4 (2) (2019)